Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups.

Autor: Khangura SD; Faculty of Medicine, School of Public Health and Preventive Medicine, University of Ottawa, 451 Smyth Road, Ottawa, ON, K1H 8M5, Canada., Tingley K; Faculty of Medicine, School of Public Health and Preventive Medicine, University of Ottawa, 451 Smyth Road, Ottawa, ON, K1H 8M5, Canada., Chakraborty P; Newborn Screening Ontario, Ottawa, ON, Canada.; Division of Metabolics and Newborn Screening, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Faculty of Medicine, Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada., Coyle D; Faculty of Medicine, School of Public Health and Preventive Medicine, University of Ottawa, 451 Smyth Road, Ottawa, ON, K1H 8M5, Canada., Kronick JB; Hospital for Sick Children, Toronto, ON, Canada.; University of Toronto, Toronto, ON, Canada., Laberge AM; CHU Sainte-Justine, Montréal, QC, Canada., Little J; Faculty of Medicine, School of Public Health and Preventive Medicine, University of Ottawa, 451 Smyth Road, Ottawa, ON, K1H 8M5, Canada., Miller FA; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada., Mitchell JJ; Montréal Children's Hospital, Montréal, QC, Canada., Prasad C; Western University, London, ON, Canada., Siddiq S; Faculty of Medicine, School of Public Health and Preventive Medicine, University of Ottawa, 451 Smyth Road, Ottawa, ON, K1H 8M5, Canada., Siriwardena K; University of Alberta Hospital, Edmonton, AB, Canada., Sparkes R; Alberta Children's Hospital, Calgary, AB, Canada., Speechley KN; Western University, London, ON, Canada., Stockler S; University of British Columbia, Vancouver, BC, Canada., Trakadis Y; Montréal Children's Hospital, Montréal, QC, Canada., Wilson BJ; Faculty of Medicine, School of Public Health and Preventive Medicine, University of Ottawa, 451 Smyth Road, Ottawa, ON, K1H 8M5, Canada., Wilson K; Ottawa Hospital Research Institute, Ottawa, ON, Canada., Potter BK; Faculty of Medicine, School of Public Health and Preventive Medicine, University of Ottawa, 451 Smyth Road, Ottawa, ON, K1H 8M5, Canada. bpotter@uottawa.ca.
Jazyk: angličtina
Zdroj: Journal of inherited metabolic disease [J Inherit Metab Dis] 2016 Jan; Vol. 39 (1), pp. 139-47. Date of Electronic Publication: 2015 Jul 25.
DOI: 10.1007/s10545-015-9881-1
Abstrakt: Background: Patient-centered health care for children with inborn errors of metabolism (IEM) and their families is important and requires an understanding of patient experiences, needs, and priorities. IEM-specific patient groups have emerged as important voices within these rare disease communities and are uniquely positioned to contribute to this understanding. We conducted qualitative interviews with IEM patient group representatives to increase understanding of patient and family experiences, needs, and priorities and inform patient-centered research and care.
Methods: We developed a sampling frame of patient groups representing IEM disease communities from Canada, the United States, and United Kingdom. With consent, we interviewed participants to explore their views on experiences, needs, and outcomes that are most important to children with IEM and their families. We analyzed the data using a qualitative descriptive approach to identify key themes and sub-themes.
Results: We interviewed 18 organizational representatives between February 28 and September 17, 2014, representing 16 IEMs and/or disease categories. Twelve participants voluntarily self-identified as parents and/or were themselves patients. Three key themes emerged from the coded data: managing the uncertainty associated with raising and caring for a child with a rare disease; challenges associated with the affected child's life transitions, and; the collective struggle for improved outcomes and interventions that rare disease communities navigate.
Conclusion: Health care providers can support children with IEM and their families by acknowledging and reducing uncertainty, supporting families through children's life transitions, and contributing to rare disease communities' progress toward improved interventions, experiences, and outcomes.
Databáze: MEDLINE
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